Date of Award

1-1-2010

Document Type

Campus Access Thesis

Department

Genetic Counseling

First Advisor

Karen A. Brooks

Abstract

OBJECTIVES: Familial adenomatous polyposis (FAP) is an autosomal dominant cancer predisposition syndrome with nearly a 100% lifetime risk of developing colorectal cancer, if left untreated. Children with FAP have up to a 2% risk for the development of hepatoblastoma (HB). Guidelines for HB screening are not well established, as screening for HB is controversial. The objectives of this study were to assess parental awareness of HB risk, as well as parental attitudes and beliefs regarding clinical utilization of HB screening.

METHODS: Forty-six parents of thirty-eight households with children under the age of 18, or with HB diagnosis at any age, completed a 62-item survey on personal and family clinical information related to FAP, demographics, as well as attitudes towards genetic testing, and the use HB screening.

RESULTS: Thirty-one affected parents, and fifteen unaffected parents participated. Parental perceptions of benefits and barriers of HB screening showed statistically significant associations with parental decision to use HB screening. Thirty-two parents (70%) would use HB screening for their children. Doctor recommendation and informative genetic test result were the most influential factors. Exactly 50% of parents were aware of the risk for HB. Eleven households (29%) reported clinical use of HB screening. Nearly 74% of individuals who were unaware of HB risk, and 64% of individuals who had not received recommendations for HB screening indicated that they would utilize HB screening.

CONCLUSIONS: Parents are interested in clinical utilization of HB screening. Health care providers of families with FAP should discuss the availability of HB screening in children with or without the precedence of genetic testing.

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